Abnormal facial shape, and Sparse scalp hair

Diseases related with Abnormal facial shape and Sparse scalp hair

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


Top matches:

Medium match COFFIN-SIRIS SYNDROME 4; CSS4


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Medium match COFFIN-SIRIS SYNDROME 5; CSS5


Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Medium 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT


Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Medium match SECKEL SYNDROME


Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Medium match COFFIN-SIRIS SYNDROME 3; CSS3


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Medium match COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Medium match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Medium match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Medium match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Sparse scalp hair

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Coarse facial features Downslanted palpebral fissures Wide nose Thick eyebrow Wide mouth Delayed skeletal maturation Feeding difficulties Anteverted nares Hearing impairment Intrauterine growth retardation Abnormal corpus callosum morphology Long eyelashes Generalized hypotonia Micrognathia Thin upper lip vermilion Abnormality of the dentition Abnormality of dental enamel Brachydactyly Low-set ears Wide nasal bridge Delayed speech and language development Sparse eyelashes Abnormal heart morphology Hypertrichosis Nail dystrophy Ptosis Aplasia/Hypoplasia of the distal phalanges of the hand Sparse hair Dandy-Walker malformation Macroglossia Narrow mouth Abnormality of cardiovascular system morphology Visual impairment Scoliosis Hypertelorism

Rare Symptoms - Less than 30% cases


Fine hair Sparse and thin eyebrow Macrotia Recurrent respiratory infections Triangular face Thick vermilion border High forehead Highly arched eyebrow Cataract Epicanthus Long philtrum Syndactyly Brachycephaly Toe syndactyly Thin vermilion border Microdontia Abnormality of dental morphology Cutaneous syndactyly of toes Malar flattening Midface retrusion Broad philtrum Mild global developmental delay Constipation Dystrophic toenail Thick nasal alae Muscular hypotonia Thick lower lip vermilion Low anterior hairline Craniosynostosis Cerebellar hypoplasia Neurological speech impairment Small nail Hirsutism Clinodactyly Recurrent infections Prominent forehead Sandal gap Posteriorly rotated ears Intellectual disability, mild Sensorineural hearing impairment Short nose Otitis media Cerebral atrophy Upslanted palpebral fissure Camptodactyly Microtia Congenital cataract Smooth philtrum Flat face Tapered finger Mandibular prognathia Macrodontia of permanent maxillary central incisor 2-4 toe cutaneous syndactyly Narrow nose Short palpebral fissure Large fontanelles Dental crowding Hypoplasia of the corpus callosum Hyperostosis Long nose Basal ganglia calcification Spinal cord compression 4-5 finger syndactyly Large earlobe Hypoplasia of teeth Cranial hyperostosis Broad long bones Persistent pupillary membrane Radioulnar synostosis Fifth finger distal phalanx clinodactyly Tented upper lip vermilion Arnold-Chiari type I malformation Mild short stature Cutaneous finger syndactyly Hypohidrosis Bilateral single transverse palmar creases Abnormal dermatoglyphics Scrotal hypoplasia Palmoplantar hyperkeratosis Brittle hair Aplasia/Hypoplasia of the eyebrow Abnormality of the ear Abnormality of the ureter Nail dysplasia Bilateral cleft lip Hypoplasia of the zygomatic bone Bilateral cleft lip and palate Anodontia Sparse lateral eyebrow Dystrophic fingernails Pili torti Abnormality of the philtrum Wide intermamillary distance Ectodermal dysplasia Delayed cranial suture closure Hypogonadism Pericarditis Underdeveloped nasal alae Shallow orbits Broad eyebrow Craniofacial asymmetry Cleft palate Alopecia Hyperhidrosis EEG abnormality Hypodontia Cleft lip Abnormality of the kidney Hyperlordosis Protruding ear Finger syndactyly Carious teeth Synophrys Cleft upper lip Oral cleft Overgrowth Small hand Dental malocclusion Fragile skin Recurrent pneumonia Hypoalbuminemia Glomerulosclerosis Neonatal respiratory distress Focal segmental glomerulosclerosis Ectopic kidney Interstitial pulmonary abnormality Tubular atrophy Abnormal lung morphology Onycholysis Decreased glomerular filtration rate Crossed fused renal ectopia Respiratory acidosis Junctional split Cognitive impairment Clinodactyly of the 5th finger Gynecomastia Nephrotic syndrome Joint hyperflexibility Renal insufficiency Arnold-Chiari malformation Trigonocephaly Hypermetropia Sagittal craniosynostosis Small pituitary gland Fever Respiratory distress Pneumonia Cyanosis Abnormal cardiac septum morphology Proteinuria Respiratory tract infection Erythema Feeding difficulties in infancy Narrow chest Round face Abnormal blistering of the skin Glaucoma Hip dysplasia Atrial septal defect Microphthalmia Absent fifth fingernail Failure to thrive Myopia Frontal bossing Short distal phalanx of finger Arachnodactyly Short philtrum Deeply set eye Prominent interphalangeal joints Telecanthus Absent speech Recurrent otitis media Short foot Delayed eruption of teeth Microcornea Hypoplasia of the maxilla Absent fifth toenail Shortening of all distal phalanges of the fingers Convex nasal ridge Abnormality of earlobe Narrow face Abnormality of the skeletal system Reduced number of teeth Cachexia Cone-shaped epiphysis Prematurely aged appearance Strabismus Absent earlobe Poor speech High palate Slender finger Delayed eruption of permanent teeth Lacrimal duct aplasia Hypoplastic toenails Motor delay Agenesis of corpus callosum Abnormality of the pinna Progressive hypotrichosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Tall stature, related diseases and genetic alterations Myopia and Ventriculomegaly, related diseases and genetic alterations Macrocephaly and Dysphagia, related diseases and genetic alterations Tremor and Renal cell carcinoma, related diseases and genetic alterations Flexion contracture and Renal hypoplasia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more