Hydrocephalus, and Webbed neck

Diseases related with Hydrocephalus and Webbed neck

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Webbed neck that can help you solving undiagnosed cases.


Top matches:

High match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as nslh, tosti syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO GARD OMIM

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

High match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2 Is also known as ;ns/lah; tosti syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIMPS ORPHANET UMLS OMIM

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2

High match CAMPOMELIC DYSPLASIA

Campomelic dysplasia (CMPD) is an autosomal dominant skeletal dysplasia characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. CMPD is often lethal in the first year of life, due to respiratory insufficiency related to small chest size and tracheobronchial hypoplasia (summary by Matsushita et al., 2013).SOX9 mutations causing campomelic dysplasia have also been associated with 46,XY sex reversal, with marked variability in the degree of gonadal dysgenesis among patients carrying the same mutation (Cameron and Sinclair, 1997).

CAMPOMELIC DYSPLASIA Is also known as cmpd, cmd1;cmpd1, cmpd1/sra1;campomelic dwarfism

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: OMIM UMLS SCTID ORPHANET

More info about CAMPOMELIC DYSPLASIA

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Other less relevant matches:

High match FRONTONASAL DYSPLASIA 1; FND1

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11.2. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontorhiny, frontonasal dysplasia;fnd, frontonasal malformation;fnm, median facial cleft syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MONDO GARD OMIM

More info about FRONTONASAL DYSPLASIA 1; FND1

High match MECKEL SYNDROME, TYPE 1; MKS1

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as meckel-gruber syndrome, type 1, meckel syndrome;mks, mes, dysencephalia splanchnocystica, gruber syndrome, meckel-gruber syndrome;meckel-gruber syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: DOID ORPHANET UMLS OMIM MONDO MESH

More info about MECKEL SYNDROME, TYPE 1; MKS1

High match MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as mps vii, sly syndrome, beta-glucuronidase deficiency, gusb deficiency;beta-glucuronidase deficiency; mps7; mpsvii; mucopolysaccharidosis type vii; sly disease

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: DOID SCTID ORPHANET ICD10 OMIM GARD MESH MONDO NCIT

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

High match OPITZ-KAVEGGIA SYNDROME; OKS

Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Most have hypotonia, constipation, and partial agenesis of the corpus callosum. Some patients have sensorineural hearing loss and joint laxity evolving into joint contractures. Affected individuals tend to be hyperactive and talkative (summary by Graham et al., 1999).In their original family, Opitz and Kaveggia (1974) named the disorder 'FG syndrome' according to the Opitz system of using initials of patients' surnames. Genetic Heterogeneity of FG SyndromeOther forms of 'FG syndrome' were characterized due to the similar clinical features observed by Opitz and Kaveggia (1974). FGS2 (OMIM ) is caused by mutation in the FLNA gene (OMIM ) on chromosome Xq28 and FGS4 (OMIM ) is caused by mutation in the CASK gene (OMIM ) on chromosome Xp11. FGS3 (OMIM ) has been mapped to Xp22.3, and FGS5 (OMIM ) to Xq22.3.Risheg et al. (2007) suggested that the designation Opitz-Kaveggia syndrome be reserved for those cases with mutation in the MED12 gene. In part this is justified by the fact that a MED12 mutation was found in the family originally reported by Opitz and Kaveggia (1974).See also Lujan-Fryns syndrome (OMIM ), an allelic disorder with an overlapping phenotype.

OPITZ-KAVEGGIA SYNDROME; OKS Is also known as fg syndrome 1;fgs1, fg syndrome;fgs, mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum, keller syndrome;opitz-kaveggia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO UMLS ORPHANET SCTID OMIM

More info about OPITZ-KAVEGGIA SYNDROME; OKS

High match MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD Is also known as larsen syndrome, autosomal recessive, formerly;multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH UMLS ORPHANET MONDO OMIM

More info about MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD

High match PETERS-PLUS SYNDROME

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS-PLUS SYNDROME Is also known as krause-kivlin syndrome, peters anomaly with short-limb dwarfism;krause-kivlin syndrome; krause-van schooneveld-kivlin syndrome; peters anomaly with short limb dwarfism

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO MESH UMLS SCTID OMIM NCIT GARD DOID ORPHANET

More info about PETERS-PLUS SYNDROME

High match CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). The heart defects include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy. Some patients have ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Most cases occur sporadically, but autosomal dominant transmission has been rarely reported (Linden and Price, 2011).Roberts et al. (2006) provided a detailed review of CFC syndrome, including a discussion of the phenotypic overlap of CFC syndrome with Noonan syndrome (NS1 ) and Costello syndrome (OMIM ). Genetic Heterogeneity of Cardiofaciocutaneous SyndromeOther forms of cardiofaciocutaneous syndrome include CFC2 (OMIM ), caused by mutation in the KRAS gene (OMIM ); CFC3 (OMIM ), caused by mutation in the MAP2K1 gene (OMIM ); and CFC4 (OMIM ), caused by mutation in the MAP2K2 gene (OMIM ). The protein products of these causative genes, including BRAF, interact in a common RAS/ERK (see {601795}) pathway that regulates cell differentiation, proliferation, and apoptosis (summary by Roberts et al., 2006).

CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1 Is also known as cfc syndrome, cfcs;cfc syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS ORPHANET SCTID MONDO OMIM

More info about CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1

Top 5 symptoms//phenotypes associated to Hydrocephalus and Webbed neck

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Short neck Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hydrocephalus and Webbed neck. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Oxycephaly

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate

Common Symptoms - More than 50% cases


Prominent forehead

Uncommon Symptoms - Between 30% and 50% cases


Pica

Common Symptoms - More than 50% cases


Ptosis

Uncommon Symptoms - Between 30% and 50% cases


Pulmonic stenosis Motor delay Ventricular septal defect Edema Long philtrum Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Autosomal recessive inheritance Anteverted nares Epicanthus Polyhydramnios Dilatation Atrial septal defect Short nose Ventriculomegaly Downslanted palpebral fissures Craniosynostosis Pectus carinatum Relative macrocephaly Cleft lip Frontal bossing Muscular hypotonia Depressed nasal bridge Hydronephrosis Agenesis of corpus callosum Seizures Aplasia/Hypoplasia of the corpus callosum Lymphedema Clinodactyly Autosomal dominant inheritance Inguinal hernia Feeding difficulties Hypertrophic cardiomyopathy Abnormal cardiac septum morphology Posteriorly rotated ears Tics Joint laxity Conductive hearing impairment Kyphoscoliosis Proptosis Severe short stature Failure to thrive Abnormality of the skeletal system Cleft upper lip Talipes equinovarus Abnormal facial shape Flexion contracture Talipes Anal atresia Flat face Umbilical hernia Wide mouth Syndactyly Splenomegaly Optic atrophy Wide anterior fontanel Multicystic kidney dysplasia Radial deviation of finger Abnormality of the genital system High forehead Clinodactyly of the 5th finger Cataract Nevus Microcephaly Thin vermilion border Cerebral cortical atrophy Cognitive impairment Sparse hair Low posterior hairline Strabismus Growth delay Patent ductus arteriosus Delayed skeletal maturation Pectus excavatum Deep palmar crease Brachydactyly

Rare Symptoms - Less than 30% cases


Postaxial hand polydactyly Polydactyly Narrow palate Nephrotic syndrome Single transverse palmar crease Microphthalmia Open mouth Fine hair Telecanthus Hypospadias Gastroesophageal reflux Intrauterine growth retardation Short columella Encephalocele Occipital encephalocele Partial agenesis of the corpus callosum Cephalocele Camptodactyly Sacral dimple Preauricular skin tag Heterotopia Postaxial polydactyly Constipation Joint contracture of the hand Choanal atresia Lumbar hyperlordosis Microcornea Iris coloboma Hernia Myopathy Spasticity Epiphyseal dysplasia Cardiomyopathy Hypertonia Brachycephaly Coarse facial features Hyperextensible skin Glaucoma Rhizomelia Postnatal growth retardation Short metacarpal Corneal opacity Genu valgum Cutis laxa Ureteral duplication Osteopenia Feeding difficulties in infancy Full cheeks Spontaneous abortion Intestinal malrotation Lumbar scoliosis Gastrointestinal dysmotility Abnormal heart valve morphology Metatarsus adductus Hyperactivity Upslanted palpebral fissure Intellectual disability, severe Spondyloepiphyseal dysplasia Myopia Coma Congestive heart failure Nystagmus Dolichocephaly Bowing of the long bones Deep philtrum Natal tooth Coarctation of aorta Bowing of the legs Thoracic hypoplasia Bilateral talipes equinovarus Mitral regurgitation Skeletal dysplasia Dandy-Walker malformation Broad neck Disproportionate short-limb short stature Pterygium Patent foramen ovale Slow-growing hair Optic nerve hypoplasia Long eyelashes Hip dislocation Narrow chest Renal cyst Pulmonary hypoplasia Recurrent fractures Ambiguous genitalia Aplasia/Hypoplasia of the eyebrow Short palpebral fissure Depressed nasal ridge Thickened helices Thick lower lip vermilion Respiratory distress Attention deficit hyperactivity disorder Ichthyosis 11 pairs of ribs Small face Male pseudohermaphroditism Megalencephaly Sparse scalp hair Macrotia Growth hormone deficiency Eczema High palate Kyphosis Redundant skin Congenital glaucoma Restrictive ventilatory defect Aortic root aneurysm Overlapping fingers Hyperextensibility of the finger joints Clubbing Abnormally large globe Esotropia Clubbing of fingers Congenital diaphragmatic hernia Microdontia Generalized osteoporosis Mitral valve prolapse Bicuspid aortic valve Blue sclerae Accelerated skeletal maturation Woolly hair Microretrognathia Hypoplasia of the zygomatic bone Joint dislocation Left ventricular hypertrophy Abnormality of the gastrointestinal tract Dystrophic fingernails Absent eyelashes Sandal gap Radioulnar synostosis Amblyopia Abnormal lung morphology Cardiomegaly Cavernous hemangioma Atopic dermatitis Elbow flexion contracture Meningitis Abnormality of the ulna Hypotrichosis Narrow mouth Excessive wrinkled skin Anterior creases of earlobe Anteriorly placed anus Abnormality of the sternum High pitched voice Multiple joint contractures Congenital contracture Impulsivity Broad hallux Anal stenosis Pyloric stenosis Hypoplasia of the frontal lobes Plagiocephaly Gynecomastia Facial hypotonia Aganglionic megacolon Dental crowding Tongue thrusting Split hand Pachygyria Functional abnormality of the gastrointestinal tract Broad thumb Eyelid fasciculation Multiple palmar creases Multiple plantar creases Prominent nose Triangular face Thoracic scoliosis Delayed closure of the anterior fontanelle Arachnodactyly Midface retrusion Thick eyebrow Hypermetropia Abnormality of the foot Microtia Pes planus Sparse or absent eyelashes Multiple lentigines Frontal balding Endocardial fibroelastosis Retrognathia Osteoporosis Patchy alopecia Skin tags Optic nerve dysplasia Generalized ichthyosis Fever Facial wrinkling Postnatal macrocephaly Microtia, first degree Branchial fistula Prominent fingertip pads Frontal upsweep of hair Abnormality of the nasopharynx Sagittal craniosynostosis Auricular pit Upper limb undergrowth Bilateral elbow dislocations Abnormality of the abdominal wall Dysarthria Alopecia Congenital onset Open bite Encephalopathy Sparse eyebrow Scaling skin Vomiting Biparietal narrowing Absent eyebrow Malar flattening Abnormality of the dentition Long palpebral fissure Erythema Microtia, second degree Bilobate gallbladder Intestinal fistula Anterior chamber synechiae Square pelvis bone Agenesis of maxillary lateral incisor Generalized hyperpigmentation Facial hypertrichosis Underdeveloped supraorbital ridges Conical incisor Short lingual frenulum Failure to thrive in infancy Hyperkeratosis Exaggerated cupid's bow Abnormality of vision Narrow forehead Scarring Dental malocclusion Abnormal bleeding Premature birth Thick vermilion border Falls Palmoplantar keratoderma Bruising susceptibility Abnormality of skin pigmentation Inflammatory abnormality of the skin Dry skin Hyperhidrosis Oculomotor apraxia Brittle hair Cubitus valgus Peripheral axonal neuropathy Ectropion Long face Bulbous nose Abnormality of the kidney Neurological speech impairment Bilateral ptosis Abnormality of the eye EEG abnormality Hypoplasia of the vagina Birth length less than 3rd percentile Multiple joint dislocation Visual impairment Round face Short foot Short palm Smooth philtrum Micromelia Toe syndactyly Protruding ear Thin upper lip vermilion Pes cavus Cerebral atrophy Abnormality of the eyelashes Milia Brain atrophy Metacarpophalangeal joint hyperextensibility Progressive visual loss Prominent antitragus Broad distal phalanges of all fingers Spatulate thumbs Enlarged metaphyses Accessory carpal bones Hypertropia Talipes equinovalgus Knee dislocation Shoulder dislocation Wide intermamillary distance Decreased fetal movement Rieger anomaly Hypoplasia of the uterus Clitoral hypoplasia Abnormality of the pulmonary artery Limited elbow movement Downturned corners of mouth Biliary tract abnormality Diastasis recti Communicating hydrocephalus Anterior hypopituitarism Hypoplastic labia majora Stenosis of the external auditory canal Retinal coloboma Submucous cleft hard palate Limb undergrowth Proximal placement of thumb Curly hair Multiple cafe-au-lait spots Preauricular pit Abnormality of pelvic girdle bone morphology Short metatarsal Renal hypoplasia/aplasia Hemivertebrae Spina bifida occulta Intellectual disability, progressive Decreased body weight Short toe Peters anomaly Vertigo Unsteady gait Hemangioma Bifid nose Widow's peak Bifid nasal tip Median cleft lip Facial cleft Adrenal insufficiency Multiple lipomas Diabetes insipidus Lipoma Flat occiput Holoprosencephaly Bilateral single transverse palmar creases Median cleft palate Abnormality of the face Oral cleft Tetralogy of Fallot Broad nasal tip Postural instability Decreased testicular size Hypoplasia of the maxilla Wide nose Hypoplasia of the corpus callosum Coloboma Camptodactyly of finger Sporadic Broad columella Dermoid cyst Micropenis Oligohydramnios Hydroureter Polycystic kidney dysplasia Preaxial hand polydactyly Arnold-Chiari malformation Spina bifida Situs inversus totalis Hepatic fibrosis Omphalocele Renal dysplasia Sloping forehead Hypotelorism Renal agenesis Widely-spaced maxillary central incisors Cerebellar hypoplasia Midline facial cleft Anterior basal encephalocele Frontal cutaneous lipoma Pectoral muscle hypoplasia/aplasia Basal encephalocele Ethmoidal encephalocele Lipoma of corpus callosum Morning glory anomaly Cranium bifidum occultum Scleral staphyloma Hypoplastic frontal sinuses Hypothyroidism Wide nasal bridge Anophthalmia Freckling Blepharophimosis Respiratory insufficiency Hyperpigmentation of the skin Superior pectus carinatum Abnormality of the intervertebral disk Dermal translucency Peripheral pulmonary artery stenosis Fragile nails Arnold-Chiari type I malformation Abnormality of the elbow Right bundle branch block Hypoplastic toenails Short long bone Overfolded helix Cafe-au-lait spot Coarse hair Abnormal palate morphology Abnormality of the fingernails Joint hypermobility Carious teeth Nasal speech Red hair Small posterior fossa Loose anagen hair Delayed speech and language development Apnea Laryngomalacia Shortening of all phalanges of the toes Neonatal short-limb short stature Poorly ossified cervical vertebrae Anterior tibial bowing Hypoplastic inferior ilia Small abnormally formed scapulae Shortening of all phalanges of fingers Hypoplastic cervical vertebrae Absent sternal ossification Hypoplasia of olfactory tract Abnormal external genitalia Tracheobronchomalacia Abnormality of the sense of smell Skin dimples Tibial bowing Sex reversal Hypoplastic scapulae Hypoplastic iliac wing Pierre-Robin sequence Shallow orbits Fibular hypoplasia Cystic hygroma Tracheomalacia Gonadal dysgenesis Abnormal renal morphology Thin ribs Femoral bowing Preaxial polydactyly External genital hypoplasia Broad forehead Hydrops fetalis Dysostosis multiplex Spinal cord compression Thoracic kyphosis Arteriovenous malformation Hypoplasia of the odontoid process Epiphyseal stippling Hyperactive deep tendon reflexes Abnormality of the hip bone Pleural effusion Recurrent upper respiratory tract infections Cardiac arrest Opacification of the corneal stroma Broad ribs Gingival overgrowth Hypertrichosis Hepatitis Spastic tetraplegia Neurodegeneration Hip dysplasia Widened subarachnoid space Ascites Tetraplegia Macroglossia Hirsutism Facial asymmetry Thoracolumbar scoliosis Nonimmune hydrops fetalis Ranula Pseudoarthrosis Anxiety Aggressive behavior Neonatal hypotonia Respiratory failure X-linked recessive inheritance Behavioral abnormality Sensorineural hearing impairment Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Dermatan sulfate excretion in urine Urinary glycosaminoglycan excretion Anterior beaking of lumbar vertebrae Mucopolysacchariduria Snoring Prominent sternum J-shaped sella turcica Recurrent ear infections Pulmonary insufficiency Thoracolumbar kyphosis Narrow greater sacrosciatic notches Thoracic kyphoscoliosis Acetabular dysplasia Enlarged thorax Diaphyseal thickening Abnormality of the pleura Platyspondyly Abnormality of the nervous system Meningocele Cystic renal dysplasia Elevated alpha-fetoprotein Abnormal chorioretinal morphology Aplasia/Hypoplasia of the iris Accessory spleen Ambiguous genitalia, female Neural tube defect Portal fibrosis Bile duct proliferation Pancreatic cysts Cerebellar dysplasia Congenital hepatic fibrosis Ambiguous genitalia, male Lobar holoprosencephaly Abnormality of the larynx Breech presentation Abnormality of the uterus Single umbilical artery Furrowed tongue Asplenia Sclerocornea Adrenal hypoplasia Postaxial foot polydactyly Abnormality of the ureter Foot polydactyly Anencephaly Lobulated tongue Pancreatic fibrosis Hyperlordosis Intellectual disability, mild Respiratory tract infection Dyspnea Joint stiffness Hepatosplenomegaly Muscular hypotonia of the trunk Intellectual disability, moderate Mandibular prognathia Recurrent infections Recurrent respiratory infections Babinski sign Arrhythmia Hepatomegaly Aplasia/Hypoplasia of the tongue Craniorachischisis Elevated amniotic fluid alpha-fetoprotein Olfactory lobe agenesis Occipital meningocele Cystic liver disease Urethral obstruction True hermaphroditism Large placenta Hypoplasia of the bladder Cerebral hypoplasia Urethral atresia Meningoencephalocele Oral aversion



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Other signs and symptoms that you may find interesting

Rod-cone dystrophy and Abnormality of cardiovascular system morphology, related diseases and genetic alterations Myopia and Babinski sign, related diseases and genetic alterations Intellectual disability, severe and EEG abnormality, related diseases and genetic alterations