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55199003: Hypoplasia (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
91766011 Hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
91769016 Hypocellularity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
793513011 Hypoplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoplasia Is a Maturation defect true Inferred relationship Some
Hypoplasia Is a anomalie du développement false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital horizontal mandibular hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Diffuse hypoplasia of right ventricle Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 5 (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of cerebrum Associated morphology True Hypoplasia Inferred relationship Some 1
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. Associated morphology True Hypoplasia Inferred relationship Some 1
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. Associated morphology True Hypoplasia Inferred relationship Some 2
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Associated morphology True Hypoplasia Inferred relationship Some 1
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. Associated morphology True Hypoplasia Inferred relationship Some 2
Amyotrophia congenita Associated morphology True Hypoplasia Inferred relationship Some 1
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Associated morphology True Hypoplasia Inferred relationship Some 3
Left renal agenesis co-occurrent with right renal hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 2
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Associated morphology True Hypoplasia Inferred relationship Some 1
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. Associated morphology True Hypoplasia Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. Associated morphology True Hypoplasia Inferred relationship Some 3
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Associated morphology False Hypoplasia Inferred relationship Some 1
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Associated morphology True Hypoplasia Inferred relationship Some 2
Scimitar syndrome with additional anomalous pulmonary venous connection (disorder) Associated morphology True Hypoplasia Inferred relationship Some 3
Scimitar syndrome with additional anomalous pulmonary venous connection (disorder) Associated morphology False Hypoplasia Inferred relationship Some 2
Scimitar syndrome Associated morphology True Hypoplasia Inferred relationship Some 2
Scimitar syndrome Associated morphology False Hypoplasia Inferred relationship Some 3
A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance. Associated morphology True Hypoplasia Inferred relationship Some 1
Stabilization of hypoplastic thumb Direct morphology True Hypoplasia Inferred relationship Some 1
Streak gonad Associated morphology True Hypoplasia Inferred relationship Some 1
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. Associated morphology True Hypoplasia Inferred relationship Some 1
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterised by severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. Associated morphology True Hypoplasia Inferred relationship Some 2
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. Associated morphology True Hypoplasia Inferred relationship Some 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Associated morphology True Hypoplasia Inferred relationship Some 2
Hypoplastic left heart syndrome Associated morphology True Hypoplasia Inferred relationship Some 1
Turner's tooth Associated morphology True Hypoplasia Inferred relationship Some 1
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder) Associated morphology True Hypoplasia Inferred relationship Some 2
Hypoplasia of left heart without intrinsic valve stenosis and without atresia (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Associated morphology True Hypoplasia Inferred relationship Some 4
Antley-Bixler syndrome Associated morphology True Hypoplasia Inferred relationship Some 2
Congenital hypoplasia of eye bulge Associated morphology True Hypoplasia Inferred relationship Some 1
Hypotrichosis with keratosis pilaris and lentiginosis Associated morphology False Hypoplasia Inferred relationship Some 2
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypotrichia Associated morphology True Hypoplasia Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. Associated morphology True Hypoplasia Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. Associated morphology True Hypoplasia Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. Associated morphology True Hypoplasia Inferred relationship Some 1
Hemifacial microsomia Associated morphology True Hypoplasia Inferred relationship Some 1
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Associated morphology True Hypoplasia Inferred relationship Some 1
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Associated morphology True Hypoplasia Inferred relationship Some 3
Microglossia Associated morphology True Hypoplasia Inferred relationship Some 1
Craniofacial microsomia Associated morphology True Hypoplasia Inferred relationship Some 1
Bilateral craniofacial microsomia Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of uterus and cervix Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of ovary Associated morphology True Hypoplasia Inferred relationship Some 1
Ichthyosis-hypotrichosis syndrome is characterized by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. Associated morphology True Hypoplasia Inferred relationship Some 1
A rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. Associated morphology True Hypoplasia Inferred relationship Some 2
A rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. Associated morphology True Hypoplasia Inferred relationship Some 3
Streak ovary Associated morphology True Hypoplasia Inferred relationship Some 1
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. Associated morphology True Hypoplasia Inferred relationship Some 1
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. Associated morphology True Hypoplasia Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with preauricular pits/tags. Associated morphology True Hypoplasia Inferred relationship Some 3
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Associated morphology True Hypoplasia Inferred relationship Some 6
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. Associated morphology True Hypoplasia Inferred relationship Some 5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Associated morphology True Hypoplasia Inferred relationship Some 5
Dandy-Walker syndrome Associated morphology True Hypoplasia Inferred relationship Some 1
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. Associated morphology True Hypoplasia Inferred relationship Some 3
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Associated morphology True Hypoplasia Inferred relationship Some 4
Dandy-Walker syndrome with spina bifida Associated morphology True Hypoplasia Inferred relationship Some 1
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Associated morphology True Hypoplasia Inferred relationship Some 4
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Associated morphology True Hypoplasia Inferred relationship Some 3
A rare, genetic, non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, figure of 8 midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. Associated morphology True Hypoplasia Inferred relationship Some 2
A rare, genetic, non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, figure of 8 midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. Associated morphology True Hypoplasia Inferred relationship Some 1
A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Associated morphology True Hypoplasia Inferred relationship Some 1
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). Associated morphology True Hypoplasia Inferred relationship Some 2
Leydig cell agenesis Associated morphology True Hypoplasia Inferred relationship Some 1
Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Achondrogenesis, type IA Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoganglionosis of large intestine (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoganglionosis of large intestine (disorder) Associated morphology True Hypoplasia Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Associated morphology True Hypoplasia Inferred relationship Some 2
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. Associated morphology True Hypoplasia Inferred relationship Some 3
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. Associated morphology True Hypoplasia Inferred relationship Some 1
Myelatelia Associated morphology True Hypoplasia Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. Associated morphology True Hypoplasia Inferred relationship Some 1
A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. Associated morphology True Hypoplasia Inferred relationship Some 1
Incomplete development of membranous labyrinth Associated morphology True Hypoplasia Inferred relationship Some 1
Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplastic tricuspid papillary muscle Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of eye Associated morphology True Hypoplasia Inferred relationship Some 1
Rudimentary tracheal bronchus Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Achondrogenesis Associated morphology True Hypoplasia Inferred relationship Some 2
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Associated morphology True Hypoplasia Inferred relationship Some 3
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Achondrogenesis, type II Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplastic mitral papillary muscle Associated morphology True Hypoplasia Inferred relationship Some 1
A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated. Associated morphology True Hypoplasia Inferred relationship Some 4
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Associated morphology True Hypoplasia Inferred relationship Some 4
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Associated morphology True Hypoplasia Inferred relationship Some 2
Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Hypoplasia Inferred relationship Some 3
Achondroplasia Associated morphology True Hypoplasia Inferred relationship Some 2
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology True Hypoplasia Inferred relationship Some 1
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology True Hypoplasia Inferred relationship Some 4
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. Associated morphology True Hypoplasia Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Associated morphology True Hypoplasia Inferred relationship Some 3

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