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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
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. Associated morphology True Hypoplasia Inferred relationship Some 2
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 False Hypoplasia Inferred relationship Some 4
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 9
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 False Hypoplasia Inferred relationship Some 7
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 False Hypoplasia Inferred relationship Some 4
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Associated morphology False Hypoplasia Inferred relationship Some 5
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. Associated morphology False 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 False Hypoplasia Inferred relationship Some 6
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 False Hypoplasia Inferred relationship Some 6
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 False Hypoplasia Inferred relationship Some 3
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 False Hypoplasia Inferred relationship Some 6
Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes (disorder) Associated morphology False Hypoplasia Inferred relationship Some 2
Congenital pulmonary hypoplasia due to lung space occupying lesion (disorder) Associated morphology False Hypoplasia Inferred relationship Some 2
A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality. Associated morphology True Hypoplasia Inferred relationship Some 4
Congenital hypoplasia of patella (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of right ventricular outflow tract and trabecular area Associated morphology False Hypoplasia Inferred relationship Some 4
A rare developmental defect during embryogenesis characterised by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the double-ring sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected. Associated morphology True Hypoplasia Inferred relationship Some 1
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. Associated morphology False 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 False Hypoplasia Inferred relationship Some 7
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. Associated morphology False Hypoplasia Inferred relationship Some 5
Hypoplasia of mandibular condyle Associated morphology True Hypoplasia Inferred relationship Some 1
Familial adrenocortical hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. Associated morphology True Hypoplasia Inferred relationship Some 3
Congenital hypoplasia of right optic nerve (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of left optic nerve (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bilateral optic nerves (disorder) Associated morphology True Hypoplasia Inferred relationship Some 2
Congenital hypoplasia of bilateral optic nerves (disorder) Associated morphology True Hypoplasia Inferred relationship Some 3
Congenital hypoplasia of odontoid process of axis Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of sacrum (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Goldenhar syndrome Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of auditory canal (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Left renal hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Right renal hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Left renal agenesis co-occurrent with right renal hypoplasia Associated morphology False Hypoplasia Inferred relationship Some 3
Right renal agenesis co-occurrent with left renal hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 2
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. Associated morphology True Hypoplasia Inferred relationship Some 3
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolyte abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. Associated morphology True Hypoplasia Inferred relationship Some 1
Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability. Associated morphology True Hypoplasia Inferred relationship Some 1
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. Associated morphology True Hypoplasia Inferred relationship Some 2
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. Associated morphology False Hypoplasia Inferred relationship Some 2
A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. Associated morphology False Hypoplasia Inferred relationship Some 1
Ask-Upmark kidney Associated morphology True Hypoplasia Inferred relationship Some 1
Hypertrophy of left kidney co-occurrent and due to congenital hypoplasia of right kidney Associated morphology True Hypoplasia Inferred relationship Some 1
A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. Associated morphology True Hypoplasia Inferred relationship Some 2
Hypertrophy of right kidney co-occurrent and due to congenital hypoplasia of left kidney Associated morphology True Hypoplasia Inferred relationship Some 1
Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. Associated morphology True Hypoplasia Inferred relationship Some 1
Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. Associated morphology True Hypoplasia Inferred relationship Some 1
Transient hypoplastic anaemia Associated morphology True Hypoplasia Inferred relationship Some 3
Congenital hypoplastic anemia Associated morphology True Hypoplasia Inferred relationship Some 1
Double aortic arch with dominant left arch and hypoplasia of right arch Associated morphology True Hypoplasia Inferred relationship Some 2
Double aortic arch with dominant right arch and hypoplasia of left arch (disorder) Associated morphology True Hypoplasia Inferred relationship Some 2
Acquired micrognathia (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology False Hypoplasia Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Associated morphology True Hypoplasia Inferred relationship Some 2
Congenital hypoplasia of entire upper limb (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of part of upper limb Associated morphology True Hypoplasia Inferred relationship Some 1
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. The condition is most probably hereditary, transmitted as an autosomal dominant trait. Associated morphology True Hypoplasia Inferred relationship Some 2
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. Associated morphology True Hypoplasia Inferred relationship Some 3
Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression. Associated morphology True Hypoplasia Inferred relationship Some 1
Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. Associated morphology True Hypoplasia Inferred relationship Some 1
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally placed thumbs, and skin hyperpigmentation with areas of raindrop depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. Associated morphology True Hypoplasia Inferred relationship Some 3
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. Associated morphology True Hypoplasia Inferred relationship Some 2
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterised by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Associated morphology True Hypoplasia Inferred relationship Some 1
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. Associated morphology True Hypoplasia Inferred relationship Some 1
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent. Associated morphology True Hypoplasia Inferred relationship Some 1
Bilateral renal hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. Associated morphology True Hypoplasia Inferred relationship Some 1
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing. Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital transverse mandibular hypoplasia (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. Associated morphology True Hypoplasia Inferred relationship Some 1
Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital micrognathism Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital pontocerebellar hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. Associated morphology True Hypoplasia Inferred relationship Some 1
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Associated morphology True Hypoplasia Inferred relationship Some 1
A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of corpus callosum Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of right ventricular outflow tract and trabecular area Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of right ventricular inflow tract (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of right ventricular outflow tract Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital vertical mandibular hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Testicular regression syndrome Associated morphology True Hypoplasia Inferred relationship Some 1
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. Associated morphology True Hypoplasia Inferred relationship Some 1
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. Associated morphology True Hypoplasia Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Associated morphology True Hypoplasia Inferred relationship Some 2
Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Intrahepatic biliary hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital pulmonary hypoplasia due to lung space occupying lesion (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Septo-optic dysplasia sequence Associated morphology True Hypoplasia Inferred relationship Some 2
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 1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. Associated morphology True Hypoplasia Inferred relationship Some 1
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. Associated morphology True Hypoplasia Inferred relationship Some 2
Pulmonary hypoplasia associated with short gestation Associated morphology True Hypoplasia Inferred relationship Some 1
Oligomeganephronic hypoplasia of kidney Associated morphology True Hypoplasia Inferred relationship Some 2
Cerebro-costo-mandibular syndrome Associated morphology True Hypoplasia Inferred relationship Some 1
A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking. Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of cardiac ventricle Associated morphology True Hypoplasia Inferred relationship Some 1
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital horizontal mandibular hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1

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