Strabismus, and Sparse scalp hair

Diseases related with Strabismus and Sparse scalp hair

In the following list you will find some of the most common rare diseases related to Strabismus and Sparse scalp hair that can help you solving undiagnosed cases.


Top matches:

Low match EEM SYNDROME


EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).

EEM SYNDROME Is also known as eem syndrome|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Related symptoms:

  • Strabismus
  • Abnormality of the dentition
  • Syndactyly
  • Abnormality of the eye
  • Camptodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about EEM SYNDROME

Low match COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Low match HIDROTIC ECTODERMAL DYSPLASIA


Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.

HIDROTIC ECTODERMAL DYSPLASIA Is also known as ectodermal dysplasia 2, clouston type|ectodermal dysplasia, hidrotic, 2, formerly|ectd2|clouston hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|clouston syndrome|hed2, formerly

Related symptoms:

  • Short stature
  • Strabismus
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIDROTIC ECTODERMAL DYSPLASIA

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Other less relevant matches:

Low 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 tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Low match MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Low match ADNP SYNDROME


ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder|hvdas|mental retardation, autosomal dominant 28|mrd28|helsmoortel-van der aa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADNP SYNDROME

Low match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE


Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Low match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Low match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

Low match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Top 5 symptoms//phenotypes associated to Strabismus and Sparse scalp hair

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Strabismus and Sparse scalp hair. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Abnormality of the dentition Low-set ears Hypertelorism Hearing impairment Joint laxity Depressed nasal bridge Cataract Abnormal heart morphology Thin upper lip vermilion Prominent forehead Widely spaced teeth Long philtrum Growth hormone deficiency Abnormal facial shape Hypotrichosis Microdontia Ectodermal dysplasia Abnormal cardiac septum morphology Delayed eruption of teeth Seizures Muscular hypotonia Abnormality of cardiovascular system morphology Sparse hair Delayed skeletal maturation Upslanted palpebral fissure Atrial septal defect Short nose Visual impairment High palate Micrognathia Smooth philtrum Ventricular septal defect Hypoplasia of the corpus callosum Exotropia Growth delay Sparse and thin eyebrow Sparse eyelashes Downslanted palpebral fissures Abnormality of the skeletal system Delayed speech and language development Finger syndactyly Brachydactyly Feeding difficulties Posteriorly rotated ears

Rare Symptoms - Less than 30% cases


Slow-growing hair Anemia Short neck Obesity Genu valgum Thick lower lip vermilion Ptosis Cafe-au-lait spot Hepatomegaly Hernia Hypoplasia of the maxilla Dilatation Cholestasis Low-set, posteriorly rotated ears Bifid uvula Hyperactivity High forehead Carious teeth Sensorineural hearing impairment Epicanthus Nystagmus Frontal bossing Recurrent urinary tract infections Redundant skin Joint hypermobility Malar flattening Failure to thrive Cone-shaped epiphysis Muscular hypotonia of the trunk Webbed neck Small hand Depressivity Attention deficit hyperactivity disorder Anxiety Cone-shaped epiphyses of the phalanges of the hand Frontal upsweep of hair Amblyopia Syndactyly Wide mouth Craniosynostosis Hypermetropia Thick eyebrow Otitis media Recurrent otitis media Trigonocephaly Clinodactyly Alopecia Hyperhidrosis Cleft lip Intrauterine growth retardation Short distal phalanx of finger Cleft palate Hyperpigmentation of the skin Small for gestational age Cryptorchidism Polydactyly Diabetes mellitus Postnatal growth retardation Deeply set eye Severe short stature Fair hair Fragile nails Esodeviation Steatorrhea Abnormal vagina morphology Facial cleft Aplasia cutis congenita of scalp Anal stenosis Lacrimation abnormality Hypoproteinemia Abnormality of the pancreas Rectovaginal fistula Small face Perimembranous ventricular septal defect Abnormality of the rib cage Abnormal hair pattern Calvarial skull defect Hypoplastic nipples Agenesis of permanent teeth Anteriorly placed anus Hypopituitarism Exocrine pancreatic insufficiency Glycosuria Cardiomyopathy Broad finger Dilated cardiomyopathy Intestinal malrotation Generalized muscle weakness Abdominal distention Single transverse palmar crease Downturned corners of mouth Hepatic failure Anal atresia Malabsorption Abnormality of the liver Convex nasal ridge Hydronephrosis Elevated hepatic transaminase Hypothyroidism Fatigue Micropenis Clinodactyly of the 5th finger Hypospadias Intellectual disability, severe Underdeveloped nasal alae Hypoplasia of penis Rieger anomaly Hypoplastic facial bones Hydroureter Dextrocardia Congenital sensorineural hearing impairment Clitoral hypertrophy Portal hypertension Abnormality of the genitourinary system Prominent scalp veins Oligodontia Severe muscular hypotonia Situs inversus totalis Edema Burkitt lymphoma Increased serum insulin-like growth factor 1 Hypertension Hyperbilirubinemia Pointed chin Hypocalcemia Abnormality of the nail Skin dimples Bone pain Uterus didelphys Abnormality of the kidney Renal cyst Nephropathy Retinal dystrophy Postaxial polydactyly Abnormality of skin pigmentation Retinal degeneration Oral cleft Stage 5 chronic kidney disease Scarring Umbilical hernia Narrow forehead Skeletal dysplasia Rod-cone dystrophy Pneumonia Visual loss Renal insufficiency Respiratory insufficiency Ataxia Redundant skin in infancy Multiple long-bone exostoses Macroglossia Renal dysplasia Rib exostoses Recurrent lower respiratory tract infections Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Accessory oral frenulum Pyelonephritis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Cholangitis Thoracic dysplasia Scaphocephaly Short phalanx of finger Prominent metopic ridge Acute kidney injury Abnormal retinal morphology Nephronophthisis Short thorax Short femoral neck Cutis laxa Short ribs Wide anterior fontanel Hepatic fibrosis Scapular exostoses Persistent cloaca Abnormality of the nares Talipes equinovarus Talipes Joint hyperflexibility Delayed puberty Stroke Joint stiffness Protruding ear Conductive hearing impairment Macrotia Ventriculomegaly Scoliosis Nevus Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Increased VLDL cholesterol concentration Colonic diverticula Bulbous nose Vesicoureteral reflux Mild postnatal growth retardation Spinal cord compression Aplasia/Hypoplasia of the mandible Absent toe Hydrometrocolpos Prune belly Multiple exostoses Thick nasal alae Vaginal atresia Avascular necrosis of the capital femoral epiphysis Oligospermia Exostoses Hip dysplasia Increased number of teeth Preaxial polydactyly Deep philtrum Recurrent upper respiratory tract infections Abnormal palate morphology Scapular winging Joint dislocation Bilateral single transverse palmar creases Gynecomastia Severe failure to thrive Maternal diabetes Inverted nipples Severe intrauterine growth retardation Palmar hyperkeratosis Ichthyosis Pulmonic stenosis Hypertrophic cardiomyopathy Polyhydramnios Hydrocephalus Macrocephaly Abnormality of nail color Absent pubic hair Hidrotic ectodermal dysplasia Long eyelashes Absent axillary hair Clubbing of toes Hyperconvex nail Hypohidrotic ectodermal dysplasia Abnormal nasolacrimal system morphology Alopecia totalis Craniofacial hyperostosis Thick nail Eczema Relative macrocephaly Sparse pubic hair Glaucoma Cerebral calcification Esotropia Retinal detachment Flat face Congenital cataract Platyspondyly Arthralgia Proptosis Brachycephaly Nasal speech Midface retrusion Anteverted nares Myopia Loose anagen hair Small posterior fossa Deep palmar crease Megalencephaly Arnold-Chiari type I malformation Onycholysis Clubbing of fingers Osteoarthritis Absent eyebrow Neurological speech impairment Feeding difficulties in infancy Coarse facial features Constipation Selective tooth agenesis Ectrodactyly Sparse body hair Macular dystrophy Abnormality of dental morphology Arnold-Chiari malformation Abnormality of vision Macular degeneration Joint contracture of the hand Abnormality of retinal pigmentation Split hand Retinopathy Camptodactyly Abnormality of the eye Wide nose Broad philtrum Sparse axillary hair Conjunctivitis Blepharitis Irregular hyperpigmentation Generalized hyperpigmentation Clubbing Scaling skin Hand polydactyly Brittle hair Palmoplantar hyperkeratosis Skin ulcer Sagittal craniosynostosis Fine hair Small nail Nail dysplasia Palmoplantar keratoderma Nail dystrophy Photophobia Hyperkeratosis Small pituitary gland High myopia Hypohidrosis Multiple cafe-au-lait spots Pectus excavatum Highly arched eyebrow Everted lower lip vermilion Inability to walk Short palm Thin vermilion border Synophrys Retrognathia Narrow mouth Hypertonia Triangular face Motor delay Microtia, first degree Juvenile cataract Generalized neonatal hypotonia Eyelid coloboma Long palpebral fissure Narrow nasal bridge Obsessive-compulsive behavior Short foot Broad nasal tip Bilateral ptosis Pterygium Reduced subcutaneous adipose tissue Truncal obesity Delayed cranial suture closure High pitched voice Agitation Radial deviation of finger Lipodystrophy Patent foramen ovale Acanthosis nigricans Lymphoma Sandal gap Accelerated skeletal maturation Finger clinodactyly Decreased body weight Blue sclerae Epidermal acanthosis Type II diabetes mellitus Wide intermamillary distance Language impairment Plagiocephaly Coxa valga Hypoplastic ilia Calcification of falx cerebri Abnormal vitreous humor morphology Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Ulnar bowing Anhidrotic ectodermal dysplasia Concave nasal ridge Thick upper lip vermilion Irregular proximal tibial epiphyses Hypoplasia of the zygomatic bone Radial bowing Vitreoretinopathy Pierre-Robin sequence Aplasia cutis congenita Thickened calvaria Sparse eyebrow Ectopia lentis Macrodontia of permanent maxillary central incisor Irregular distal femoral epiphysis Cerebral visual impairment Autistic behavior Stereotypy Broad thumb Iris coloboma Hirsutism Astigmatism Broad forehead Microtia Coloboma Neonatal hypotonia Wide tufts of distal phalanges Gastroesophageal reflux Autism Inguinal hernia Absent speech Recurrent infections Respiratory distress Small distal femoral epiphysis Meningeal calcification Small proximal tibial epiphyses Absence of renal corticomedullary differentiation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Midface retrusion, related diseases and genetic alterations Delayed speech and language development and Limb undergrowth, related diseases and genetic alterations Tremor and Respiratory insufficiency, related diseases and genetic alterations Hydrocephalus and Aggressive behavior, related diseases and genetic alterations

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