Abnormal facial shape, and Depressed nasal ridge

Diseases related with Abnormal facial shape and Depressed nasal ridge

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


Top matches:

Medium match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

Medium match ZIMMERMANN-LABAND SYNDROME 2; ZLS2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Medium match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

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Other less relevant matches:

Medium match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Medium match DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

Medium match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Medium match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Medium match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Medium match BARBER-SAY SYNDROME


Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Medium match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Depressed nasal ridge

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Depressed nasal ridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Cleft palate Bulbous nose Low-set ears Talipes equinovarus Ataxia Delayed eruption of teeth Hypertrichosis Hirsutism Generalized hypotonia Pulmonary hypoplasia Narrow mouth Flat face Downslanted palpebral fissures Sensorineural hearing impairment Malar flattening

Rare Symptoms - Less than 30% cases


Severe short stature Underdeveloped nasal alae Abnormality of the kidney Gingival overgrowth Deep philtrum Generalized hirsutism Low anterior hairline Dry skin Overgrowth Wide mouth Wide nose Macrotia Dysarthria Microdontia Polycystic kidney dysplasia Blue sclerae Hypertension Macrocephaly Epicanthus Anteverted nares Oligohydramnios Seizures High, narrow palate Potter facies Thick vermilion border Nystagmus Strabismus Aplasia/Hypoplasia involving the nose Hepatomegaly Thick eyebrow Cryptorchidism Generalized hypertrichosis Short stature Telecanthus Short neck Respiratory insufficiency Atrial septal defect Coarse facial features Synophrys Gingival fibromatosis Failure to thrive Microtia Cutis laxa Atelectasis Hyperextensible skin Abnormality of the pinna Thin vermilion border Sparse and thin eyebrow Cholangitis Abnormality of the face Esophageal varix Abnormality of the genital system Abnormality of the skin Triangular face Ectodermal dysplasia Dental malocclusion Conductive hearing impairment Congenital hepatic fibrosis Rigidity Areflexia Biliary tract abnormality Portal fibrosis Hypersplenism Hematemesis Periportal fibrosis Hypoplasia of the ear cartilage Azotemia Absence of renal corticomedullary differentiation Tubulointerstitial fibrosis Hepatic cysts Muscular hypotonia Cataract Visual impairment Pancreatic cysts Hyporeflexia Mandibular prognathia Rod-cone dystrophy Dermal atrophy Retinal dystrophy Single transverse palmar crease Polyneuropathy Abnormal bleeding Decreased liver function Abnormal electroretinogram Steatorrhea Hypocholesterolemia Esodeviation Very long chain fatty acid accumulation Growth delay Hypospadias Osteoporosis Skin tags Atresia of the external auditory canal Pointed chin Neonatal hypotonia Aggressive behavior Protruding ear Autistic behavior Abnormal pyramidal sign Broad forehead Dysmetria Unsteady gait Long face Broad nasal tip Generalized myoclonic seizures Memory impairment Intention tremor Thick lower lip vermilion Infantile muscular hypotonia Gastroesophageal reflux Brisk reflexes Palpebral edema Large forehead Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Short ear Hippocampal atrophy Hypoplastic hippocampus Deeply set eye Gait ataxia Redundant skin Broad alveolar ridges Sparse eyebrow Ectropion Cupped ear Aplasia/Hypoplasia of the eyebrow Long nose Aplasia/Hypoplasia of the skin Hypoplastic nipples Shawl scrotum Inverted nipples Taurodontia Multiple renal cysts Absent nipple Sparse or absent eyelashes Breast aplasia Abnormality of female external genitalia Cerebral cortical atrophy Mild hearing impairment Frontal hirsutism Ablepharon Abnormality of male external genitalia High palate Delayed speech and language development Tremor Edema Cerebellar atrophy Intellectual disability, mild Long philtrum Constipation Cerebellar hypoplasia Hyperactivity Chronic lung disease Bilateral renal hypoplasia Enlarged kidney Prematurely aged appearance Delayed skeletal maturation High forehead Hypoglycemia Delayed puberty Hypoplasia of penis Osteoarthritis Hypohidrosis Short toe Hypercholesterolemia Reduced number of teeth High pitched voice Truncal obesity Underdeveloped supraorbital ridges Motor delay Abnormality of the elbow Abnormality of the skull Abnormality of the endocrine system Hypoplastic nasal bridge Cognitive impairment Abnormality of the dentition Kyphoscoliosis EEG abnormality Widely spaced teeth Relative macrocephaly Peritonitis Wide nasal base Thick nasal alae Brachydactyly Prominent nasal septum Congenital, generalized hypertrichosis Abnormality of the wrist Ptosis Flexion contracture Depressed nasal bridge Short nose Clinodactyly Blepharophimosis Camptodactyly of finger Hypoplasia of the maxilla Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Narrow face Congenital sensorineural hearing impairment Ulnar deviation of finger Ulnar deviation of the hand Broad eyebrow Lacrimal duct atresia Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Limited wrist movement Kyphosis Upslanted palpebral fissure Joint hypermobility Macroglossia Small nail Long eyelashes Anonychia Widow's peak Bifid nasal tip Thoracic kyphoscoliosis Inguinal hernia Portal hypertension Renal insufficiency Abnormality of female internal genitalia Bilateral renal agenesis Abnormal sacrum morphology Nonketotic hypoglycemia Urogenital fistula Urethral obstruction Sirenomelia Bilateral renal dysplasia Fetal polyuria Ventricular septal defect Respiratory distress Congestive heart failure Splenomegaly Dilatation Bicornuate uterus Respiratory failure Hepatosplenomegaly Low-set, posteriorly rotated ears Abnormality of the liver Scarring Stage 5 chronic kidney disease Renal cyst Dehydration Cholestasis Abnormal lung morphology Hepatic fibrosis Renal hypoplasia/aplasia Chronic kidney disease Vaginal atresia Breech presentation Posteriorly rotated ears Anisospondyly Umbilical hernia Joint stiffness Narrow chest Micromelia Abnormality of the metaphysis Bowing of the long bones Disproportionate short-limb short stature Short long bone Abnormality of pelvic girdle bone morphology Thoracic hypoplasia Calvarial skull defect Abnormality of the abdominal wall Neonatal short-limb short stature Abnormality of cardiovascular system morphology Non-midline cleft lip Retrognathia Proteinuria Talipes Falls Renal agenesis Renal hypoplasia Primary amenorrhea Renal dysplasia Multicystic kidney dysplasia Abnormal intestine morphology Abnormality of the genitourinary system Unilateral renal agenesis Tracheoesophageal fistula Segmental myoclonic seizures



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