Brachydactyly, and Coarse facial features

Diseases related with Brachydactyly and Coarse facial features

In the following list you will find some of the most common rare diseases related to Brachydactyly and Coarse facial features that can help you solving undiagnosed cases.


Top matches:

Medium match RABSON-MENDENHALL SYNDROME


Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL SYNDROME

Medium match SMITH-MCCORT DYSPLASIA 2; SMC2


Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

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

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Other less relevant matches:

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C


Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

Medium match COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME


COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

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 INFANTILE SYSTEMIC HYALINOSIS


Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Medium match SPONDYLOPERIPHERAL DYSPLASIA-SHORT ULNA SYNDROME


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.

SPONDYLOPERIPHERAL DYSPLASIA-SHORT ULNA SYNDROME Is also known as spondyloperipheral dysplasia with short ulna

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Brachydactyly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOPERIPHERAL DYSPLASIA-SHORT ULNA SYNDROME

Medium match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Coarse facial features

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Coarse facial features. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Generalized hypotonia Thick eyebrow Delayed speech and language development Severe short stature Anteverted nares Feeding difficulties Wide mouth Abnormality of the skeletal system Short neck Macroglossia Microcephaly Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Long philtrum Absent speech Patent ductus arteriosus Talipes equinovarus Hypertelorism Severe global developmental delay Barrel-shaped chest Long eyelashes Obesity Cryptorchidism Depressed nasal bridge Sparse scalp hair Cerebral cortical atrophy Pneumonia Recurrent infections Muscular hypotonia Broad philtrum Recurrent otitis media Otitis media Wide nasal bridge Wide nose Abnormal cardiac septum morphology Prominent forehead Constipation Clinodactyly Short metatarsal Limited elbow extension Short foot Micromelia Kyphosis Small nail Kyphoscoliosis Myopia Polycystic ovaries Thick vermilion border Pectus carinatum Thickened skin Platyspondyly Hypertrichosis Macrocephaly Limitation of joint mobility Mandibular prognathia Failure to thrive Short metacarpal Growth delay Intrauterine growth retardation Posteriorly rotated ears Osteopenia Osteoporosis Epiphyseal dysplasia Abnormality of pelvic girdle bone morphology Short toe Hypoplasia of the ulna Cone-shaped epiphysis Spondyloepiphyseal dysplasia Immunodeficiency Short thumb Broad palm Cone-shaped epiphyses of the phalanges of the hand Flat acetabular roof Flat capital femoral epiphysis Joint stiffness Telangiectasia of the skin Camptodactyly of finger Midface retrusion Abnormality of the musculature Abnormality of dental morphology Urticaria Increased susceptibility to fractures Abnormality of the gastrointestinal tract Abnormality of the adrenal glands Aplasia/Hypoplasia of the thymus Recurrent bacterial infections Skin ulcer Malar flattening Hyperpigmentation of the skin Broad thumb Lymphedema Gingival overgrowth Chronic diarrhea Skeletal dysplasia Subcutaneous nodule Recurrent fractures Short palm Short distal phalanx of finger Steatorrhea Malabsorption Abnormality of the metaphysis Osteomalacia Scoliosis Shortening of all middle phalanges of the fingers Hypertrophic cardiomyopathy Relative macrocephaly Broad face Wide nasal base Cleft palate Ventricular septal defect Hypoplasia of the corpus callosum Hydrocephalus Cardiomyopathy Hypertonia Hernia Retrognathia Umbilical hernia Thin vermilion border Short palpebral fissure Bifid uvula Delayed myelination Dandy-Walker malformation Ventricular hypertrophy Left ventricular hypertrophy Short chin Lissencephaly Failure to thrive in infancy Cutis marmorata Protruding tongue Severe failure to thrive Periorbital fullness Dental crowding Apraxia Short distal phalanx of the 5th finger Spasticity Type E brachydactyly Acetabular spurs Abnormality of vertebral epiphysis morphology Short distal phalanx of the 2nd finger Shortening of all proximal phalanges of the fingers Pugilistic facies Short distal phalanx of the 3rd finger Short distal phalanx of the 4th finger Absent styloid process of ulna Absent fifth toenail Ataxia Nystagmus High palate Neuronal loss in central nervous system Epicanthus Cerebellar atrophy Cerebral atrophy Hyporeflexia Babinski sign Cerebellar hypoplasia Hepatosplenomegaly Camptodactyly Autistic behavior Abnormality of the cerebral white matter Talipes Inability to walk Delayed eruption of teeth Absent fifth fingernail Horseshoe kidney Prominent interphalangeal joints Arthralgia of the hip Rhizomelia Metaphyseal irregularity Hypoplasia of the odontoid process Hypoplastic pelvis Disproportionate short-trunk short stature Myelopathy Broad femoral neck Thoracolumbar kyphosis Flattened epiphysis Broad phalanx Broad metatarsal Atlantoaxial instability Decreased body weight Small forehead Flattened femoral head Strabismus Downslanted palpebral fissures Abnormal heart morphology Thin upper lip vermilion Feeding difficulties in infancy Craniosynostosis Neurological speech impairment Hypermetropia Microdontia Short phalanx of finger Lumbar hyperlordosis Trigonocephaly Thick nail Abnormality of the dentition Diabetes mellitus Proteinuria Dry skin Generalized hirsutism Acanthosis nigricans Coarse hair Precocious puberty Abnormality of the thyroid gland Prematurely aged appearance Growth hormone excess Long penis Limb undergrowth Advanced eruption of teeth Abnormality of the upper urinary tract Abnormality of the abdominal wall Female pseudohermaphroditism Pain Arthralgia Pes planus Joint laxity Hyperlordosis Genu valgum Small hand Arnold-Chiari malformation Sagittal craniosynostosis Aplasia/Hypoplasia of the distal phalanges of the hand Motor delay Aspiration Peripheral neuropathy Laryngomalacia Aspiration pneumonia Tracheal stenosis Chronic lung disease Thick hair Recurrent aspiration pneumonia Ptosis Low-set ears Visual impairment Abnormality of cardiovascular system morphology Abnormal lung morphology Delayed skeletal maturation Agenesis of corpus callosum High forehead Abnormality of the pinna Sparse hair Poor speech Highly arched eyebrow Thick lower lip vermilion Low anterior hairline Abnormal corpus callosum morphology Shortening of all distal phalanges of the fingers Abnormal vertebral morphology Round face Small pituitary gland Mild global developmental delay Intellectual disability, severe Abnormality of metabolism/homeostasis Autism Anxiety Bulbous nose Febrile seizures Intellectual disability, progressive Obsessive-compulsive behavior Leukocytosis Cellulitis Periodontitis Echolalia Vesicoureteral reflux Widow's peak Bronchiolitis Neutrophilia Abnormality of the integument Reduction of neutrophil motility Cataract Cognitive impairment Optic atrophy Short nose Proptosis Gastroesophageal reflux Downturned corners of mouth Skull asymmetry



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